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PHF23 PHD finger protein 23 [ Homo sapiens (human) ]

Gene ID: 79142, updated on 1-Jun-2020

Summary

Official Symbol
PHF23provided by HGNC
Official Full Name
PHD finger protein 23provided by HGNC
Primary source
HGNC:HGNC:28428
See related
Ensembl:ENSG00000040633 MIM:612910
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
hJUNE-1b
Expression
Ubiquitous expression in esophagus (RPKM 12.0), testis (RPKM 11.9) and 25 other tissues See more
Orthologs

Genomic context

See PHF23 in Genome Data Viewer
Location:
17p13.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (7235028..7239656, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7138347..7142825, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene acyl-CoA dehydrogenase very long chain Neighboring gene microRNA 324 Neighboring gene dishevelled segment polarity protein 2 Neighboring gene GABA type A receptor-associated protein Neighboring gene CTD nuclear envelope phosphatase 1 Neighboring gene elongator acetyltransferase complex subunit 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2941, FLJ16355, FLJ22884

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
autophagy IEA
Inferred from Electronic Annotation
more info
 
negative regulation of autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of autophagosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of autophagosome maturation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of autophagosome maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
PHD finger protein 23
Names
PDH-containing protein JUNE-1
PHD finger protein 23a

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001284517.2NP_001271446.1  PHD finger protein 23 isoform 2

    See identical proteins and their annotated locations for NP_001271446.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AK297040, BY994418, DA131173, EF071959
    Consensus CDS
    CCDS67144.1
    UniProtKB/Swiss-Prot
    Q9BUL5
    Related
    ENSP00000460738.1, ENST00000571362.5
    Conserved Domains (1) summary
    cd15631
    Location:274317
    PHD_PHF23; PHD finger found in PHD finger protein 23 (PHF23)
  2. NM_001284518.1NP_001271447.1  PHD finger protein 23 isoform 3

    See identical proteins and their annotated locations for NP_001271447.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate 5' exon and uses an alternate start codon compared to variant 1. It encodes isoform 3 which has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK122901, BY994418, EF071959
    Consensus CDS
    CCDS67143.1
    UniProtKB/Swiss-Prot
    Q9BUL5
    Related
    ENSP00000414607.2, ENST00000454255.6
    Conserved Domains (1) summary
    cd15631
    Location:337380
    PHD_PHF23; PHD finger found in PHD finger protein 23 (PHF23)
  3. NM_024297.3NP_077273.2  PHD finger protein 23 isoform 1

    See identical proteins and their annotated locations for NP_077273.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BC002509, BC008630, DA131173
    Consensus CDS
    CCDS42250.1
    UniProtKB/Swiss-Prot
    Q9BUL5
    Related
    ENSP00000322579.3, ENST00000320316.8
    Conserved Domains (1) summary
    cd15631
    Location:341384
    PHD_PHF23; PHD finger found in PHD finger protein 23 (PHF23)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    7235028..7239656 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450938.1XP_024306706.1  PHD finger protein 23 isoform X1

    Conserved Domains (1) summary
    cd15631
    Location:345388
    PHD_PHF23; PHD finger found in PHD finger protein 23 (PHF23)
  2. XM_024450942.1XP_024306710.1  PHD finger protein 23 isoform X2

    Conserved Domains (1) summary
    cd15631
    Location:211254
    PHD_PHF23; PHD finger found in PHD finger protein 23 (PHF23)
  3. XM_024450940.1XP_024306708.1  PHD finger protein 23 isoform X2

    Conserved Domains (1) summary
    cd15631
    Location:211254
    PHD_PHF23; PHD finger found in PHD finger protein 23 (PHF23)
  4. XM_024450939.1XP_024306707.1  PHD finger protein 23 isoform X2

    Conserved Domains (1) summary
    cd15631
    Location:211254
    PHD_PHF23; PHD finger found in PHD finger protein 23 (PHF23)
  5. XM_024450941.1XP_024306709.1  PHD finger protein 23 isoform X2

    Related
    ENSP00000458953.1, ENST00000576955.5
    Conserved Domains (1) summary
    cd15631
    Location:211254
    PHD_PHF23; PHD finger found in PHD finger protein 23 (PHF23)
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